History: A 43-year-old woman initially presented with left-sided hearing loss in 2007 (initial diagnosis withheld) now presents with progressive gait instability and new left arm pain and numbness.
病史：43岁女性，最初于2007年发现左侧听力丧失，现表现为进行性步态不稳，新出现的症状还有左臂疼痛、麻木。
An MRI scan of the head was performed. In order: axial T2-weighted, axial T2-weighted fluid-attenuated inversion-recovery (FLAIR), axial T1-weighted postcontrast, coronal T1-weighted postcontrast, axial diffusion-weighted (DWI), and axial apparent diffusion coefficient (ADC) images of the brain.
行颅脑MRI扫描，图像按顺序分别为：轴位T2WI、轴位T2 FLAIR、轴位T1WI增强、冠状T1WI增强、DWI、ADC图。
An MRI scan of the cervical spine also was performed. Sagittal and coronal T2-weighted, sagittal T1-weighted precontrast, sagittal T1-weighted postcontrast, and axial T1-weighted postcontrast images are shown below.
行颈椎MRI扫描，矢状、冠状T2WI，矢状T1WI平扫，矢状及轴位T1WI增强图像如下所示。
Findings
Head MRI: There are multiple heterogeneously enhancing masses involving the right Meckel's cave, right cerebellopontine/cerebellomedullary angle, left cerebellopontine angle and internal auditory canal extending to the fundus and the cochlear aperture, and along the left cisternal trigeminal nerve into Meckel's cave. These are most consistent with multiple schwannomas. There is stable mass effect on the right cerebellum and brainstem, compression of the fourth ventricle, and prominence of the ventricular system. There is no acute hemorrhage, infarct, or pathologic parenchymal enhancement.
C-spine MRI: Multiple nerve sheath tumors are seen in the cervical spine and neck, including along the right C2 and left C5 nerve roots, consistent with schwannomas. Intraspinal lesions at C3-4 cause mass effect and distortion of the cord.
影像表现：
颅脑MRI：右侧Meckel氏腔及右侧桥脑小脑角区、左侧桥脑小脑角区及内听道（达底部及耳蜗孔，沿左侧脑池段三叉神经达Meckel氏腔），上述部位可见多发不均质强化的肿物。与多发神经鞘瘤表现相一致。肿瘤占位效应明显，右侧小脑及脑干、四脑室受压，幕上脑室系统扩张。未见急性出血、梗死、病理性的脑实质强化。
颈椎MRI：颈椎及颈部可见多发神经鞘肿瘤，沿右侧颈2、左侧颈5神经根走行，符合神经鞘瘤表现，颈3-4水平椎管内病变可见占位效应，脊髓受压扭曲。
Differential diagnosis
Neurofibromatosis 2
Schwannomatosis
Multiple meningiomas
Tuberous sclerosis
Neurofibromatosis 1
von Hippel-Lindau syndrome
Metastases
鉴别诊断
神经纤维瘤病2型
神经鞘瘤病
多发脑膜瘤
结节性硬化
神经纤维瘤病1型
von Hippel-Lindau综合征
转移瘤
Diagnosis: Neurofibromatosis 2
最后诊断：神经纤维瘤病2型
Neurofibromatosis 2
Diagnosis
Genetic testing is used for definitive diagnosis. However, bilateral vestibular schwannomas are considered diagnostic. Additionally, a combination of unilateral vestibular schwannomas with meningioma and other associated CNS tumors in the setting of a first-degree relative also can be used to make a clinical diagnosis.
诊断：
通过基因检测可明确诊断，然后，双侧听神经鞘瘤可提示诊断，此文，结合单侧听神经鞘瘤、脑膜瘤，以及在一级亲属中发现其他相关的中枢神经系统肿瘤，也可进行诊断。
Imaging features 影像表现
Imaging is crucial for understanding the exact malformations present in each individual and for presurgical planning.
影像对于明确每个发生的畸形并进行术前准备很重要。
Vestibular schwannomas (approximately 96% of patients):
听神经鞘瘤（约96%的患者可见）
Vestibular schwannomas (CN VIII) usually occur in the internal auditory canal or porus acusticus, and 90% of patients develop bilateral vestibular schwannomas.
听神经鞘瘤（VIII脑神经）通常发生于内听道或者耳孔，90%表现为双侧听神经鞘瘤。
On CT, they are hypodense to isodense, may calcify, and may enlarge the bony internal auditory canal.
在CT上表现为低或等密度，可见钙化，可见骨性内听道扩大。
On MRI, they are hypointense on T1, hyperintense on T2, and display avid contrast enhancement.
在MRI上表现为T1低信号，T2高信号，增强扫描明显强化。
Larger lesions are often more heterogeneous with possible hemorrhage.
病变体积较大时常因合并出血而密度/信号不均匀。
Schwannomas involving the fifth to ninth and 12th nerves also are often seen, with variable appearance, including presenting as nodular masses, sometimes with enlargement of skull base foramina.
神经鞘瘤常累及V至IX、XII颅神经，表现不同，可呈结节样肿物，有时可见颅底孔道扩大。
Meningiomas (approximately 58% of patients):
脑膜瘤（约58%的患者可见）
There can be multiple meningiomas that can range in size and that occur in an early age.
多发大小不等的脑膜瘤，发生于年轻患者。
They appear as dural-based extra-axial lesions, isointense to gray matter on T1- and T2-weighted imaging with avid contrast enhancement.
表现为以硬脑膜为基底的脑外肿瘤，T1WI、T2WI上与脑灰质信号相同，增强扫描明显强化。
Spinal tumors (approximately 55% of patients):
椎管肿瘤（约55%的患者可见）
Includes intramedullary ependymomas, schwannomas, and meningiomas, which can be seen throughout the spine.
包括髓内室管膜瘤，椎管内神经鞘瘤、脊膜瘤。
Can be associated with a syrinx.
可见脊髓空洞。
Transcortical and leptomeningeal meningovascular proliferation is seen with focal calcifications and is associated with headaches and seizures.
沿皮质及软脑膜脑膜血管增生，可见局部钙化灶，临床表现为头痛及癫痫。
Nodular cortical or subcortical masses extending to overlying leptomeninges in a plaque-like appearance can be seen anywhere in the brain.
脑内任何地方可见斑片状的沿软脑膜播散的结节样皮层及皮层下肿物。
Peripheral schwannomas:
外周神经鞘瘤
Arise from dorsal nerve roots with some extradural extensions (dumbbell morphology).
起源于神经根，向硬膜外扩展，呈哑铃状。
Appear isointense to skeletal muscle on T1 and hyperintense on T2, with avid contrast enhancement.
T1WI上表现为与骨骼肌相同的等信号，T2WI上呈高信号，明显强化。
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